Q95R (p.Gln95Arg) variant of ABCC6 (O95255)
Q95R (p.Gln95Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q95R (p.Gln95Arg) variant details
- p.Gln95Arg
- rs1355491834
- ClinGen CA394893556
- ClinVar RCV002954501
- TOPMed rs1355491834
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)